ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)

gnomAD frequency: 0.00002  dbSNP: rs543290126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618377 SCV000736236 benign Cardiovascular phenotype 2023-11-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001053449 SCV001217709 uncertain significance Primary dilated cardiomyopathy 2022-08-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs543290126, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 290 of the TXNRD2 protein (p.Gly290Val). ClinVar contains an entry for this variant (Variation ID: 518783). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15").
GeneDx RCV004719900 SCV005325520 uncertain significance not provided 2024-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32476818)

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